| 1 | CMT2A2, MFN2
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| Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.
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| Martikainen MH, Kytövuori L, Majamaa K.
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| Neuromuscul Disord 24(4):360-4. doi: 10.1016/j.nmd.2014.01.007. Epub 2014 Jan 27.
2014
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| 2 | CMT2A2, MFN2
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| Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy.
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| Vettori A, Bergamin G, Moro E, Vazza G, Polo G, Tiso N, Argenton F, Mostacciuolo ML.
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| Neuromuscul Disord 21(1):58-67. Epub 2010 Oct 14.
2011
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| 3 | CMT2A2, MFN2
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| MFN2 mutations cause severe phenotypes in most patients with CMT2A.
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| Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME.
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| Neurology 76(20):1690-6. Epub 2011 Apr 20.
2011
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| 4 | CMT2A2, MFN2
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| Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.
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| Genari AB, Borghetti VH, Gouvêa SP, Bueno KC, dos Santos PL, dos Santos AC, Barreira AA, Lourenço CM, Marques W Jr.
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| Neuromuscul Disord 21(6):428-32. Epub 2011 Apr 29.
2011
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| 5 | CMT2A2, MFN2
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| Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
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| Polke JM, Laurá M, Pareyson D, Taroni F, Milani M, Bergamin G, Gibbons VS, Houlden H, Chamley SC, Blake J, Devile C, Sandford R, Sweeney MG, Davis MB, Reilly MM.
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| Neurology 77(2):168-73. Epub 2011 Jun 29.
2011
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| 6 | CMT2A2, MFN2
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| Phenotypic spectrum of MFN2 mutations in the Spanish population.
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| Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V.
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| J Med Genet 47(4):249-56. Epub 2009 Nov 3.
2010
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| 7 | CMT2A2, MFN2
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| MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
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| Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB.
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| BMC Med Genet 11(1):48.PMID: 20350294 2010
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| 8 | CMT2A2, MFN1, MFN2, PACS2
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| Mitofusin 2 tethers endoplasmic reticulum to mitochondria.
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| de Brito OM, Scorrano L.
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| Nature 456(7222):605-10.
2008
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| 9 | MFN2, CMT2A2
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| Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
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| Cho HJ, Sung D, Kim B, Ki CS.
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| Clin Genet 71(3):267-72. 2007
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| 10 | CMT2A2, MFN2
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| Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.
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| Loiseau D, Chevrollier A, Verny C, Guillet V, Gueguen N, Pou de Crescenzo MA, Ferré M, Malinge MC, Guichet A, Nicolas G, Amati-Bonneau P, Malthièry Y, Bonneau D, Reynier P.
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| Ann Neurol 61(4):315-23.
2007
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| 11 | CMT2A2, HMSN6, HMSNVI, MFN2
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| Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
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| Zuchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM.
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| Ann Neurol 59(2):276-81. 2006
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| 12 | CMT2A2, MFN2
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| Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
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| Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, Ogawa M, Ishizaki Y, Kitamura T, Shozawa Y, Hayasaka K.
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| Hum Genet 116(1-2):23-7. Epub 2004 Nov 11. 2005
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| 13 | MFN2, CMT2A2
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| The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system.
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| Pich S, Bach D, Briones P, Liesa M, Camps M, Testar X, Palacin M, Zorzano A.
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| Hum Mol Genet 14(11):1405-15. Epub 2005 Apr 13. 2005
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| 14 | MFN2, CMT2A2
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| Emerging functions of mammalian mitochondrial fusion and fission.
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| Chen H, Chan DC.
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| Hum Mol Genet 14 Spec No. 2:R283-9. 2005
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| 15 | MFN2, CMT2A2
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| Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
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| Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battologlu E, Polyakov AV, Timmerman V, Schroder JM, Vance JM.
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| Nat Genet 36(5):449-51. Epub 2004 Apr 04. No abstract available. 2004
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| 16 | CMT2A2,CMT2B2,CMT2D,CMT2E,NEFL
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| A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
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| Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV.
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| Am J Hum Genet 67(1):37-46. 2000
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| 17 | CMTX1,CMT2A2
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| Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
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| Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Lofgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C.
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| Neurology 46 : 1311-1318. 1996
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| 18 | CMT2A1, CMT2A2
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| Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.
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| Ben Othmane K, et al.
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| Genomics 17 : 370-375. 1993
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